Female Repro Flashcards
Mullerian agenesis:
- leads to? AKA?
- Affected persons have what type of phenotype at birth?
- karyotype?
- are breast development and growth of pubic hair normal?
- variable uterine development and congenital absence of the vagina. Termed the Mayer-Rokitansky-Kuster-Hauser syndrome. The uterus may be underdeveloped or absent.
- normal. Raised as girls, having functioning ovaries, normal external genitalia
- 46,XX
- yes
complete androgen insensitivity:
- clinical presentation?
- are Mullerian structures present or absent?
- this disorder is due to?
- primary amenorrhea, absence of axillary or pubic hair, serum testosterone within or above the normal range for boys and men, high LH, and normal FSH (due to inhibition by estrogen)
- absent (blind vaginal pouch and absent uterus and cervix)
- a defect in the androgen receptor that results in complete resistance to androgens
Turner syndrome:
- clinical presentation?
- karyotype?
- short stature, primary hypogonadism, a high rate of cardiovascular anomalies, a number of comorbidities
- 45,X
Klinefelter syndrome:
- phenotype?
- karyotpe?
- male
2. 46,XXY
- Postmenopausal hirsutism or virilization of recent onset with a serum T > 150 ng/dL or a serum DHEA-S > 700-800 ug/dL suggests?
- signs of virilization include?
- How does this differ from women with ovarian hyperthecosis?
- a neoplastic source of hyperandrogenism
- deepening of the voice, increased muscle mass and clitoromegaly
- for ovarian hyperthecosis, symptoms develop gradually
- women with androgen-secreting adrenal tumors often present with?
Cushing syndrome + virilization.
Also often with DHEAS elevation (unlike ovarian tumors)
androgen secreting ovarian tumors include?
Sertoli-Leydig-cell tumors, arrhenoblastomas, or hilus-cell tumors
The first step in the evaluation of severe hyperandrogenism in postmenopausal women is?
transvaginal ultrasonography. If negative, then get adrenal CT (there are occasional cases of adrenal tumors that secrete only testosterone)
Serum inhibin is a marker for?
some ovarian tumors, including granulosa-cell tumors and sex-cord stromal tumors
serum 17-hydroxyprogesterone would be measured when there are concerns for?
nonclassic CAH due to 21-hydroxylase deficiency which is associated with HIRSUTISM, not virilization
In a transgender man who has started testosterone therapy, what masculinizing features can occur within the first 6 months?
oily skin (and sometimes acne); after 6-12 months of therapy: deepening of the voice and increased muscle strength
- what are the symptoms of premenstrual dyphoric disorder?
- premenstrual anger, irritability, and tearfulness that lasts for 1-2 weeks at a time. Accompanied by bloating, night sweats, and fatigue, with difficulty functioning at work.
PMDD should resolve in the follicular phase.
Case: 41 yo woman experiences severe hot flashes after total hysterectomy and bilateral salpingo-oophorectomy.
What is the treatment?
oral 17beta-estradiol, 2 mg daily or transdermal estrogen.
She is treated as one with primary ovarian insufficiency and therefore can prescribe higher dosages of estrogen than other women.
**Venlafaxine and gabapentin are options for some patients with breast cancer who cannot take estrogen
A side-to-side gradient greater than [ ] in androgen concentrations correctly identifies most androgen-producing tumors
1.44
Case: Patient with Prader-Willi syndrome p/w primary amenorrhea and stalled puberty. What is the most appropriate treatment?
Low dose estradiol (0.5 oral mg or 0.025 mg transdermal) and eventually progesterone to prevent endometrial hyperplasia from unopposed estradiol. This is PHYSIOLOGIC estradiol dose. Giving progesterone before breast development is complete can lead to less optimal breast development.
Do not use OCPs since doses are supraphysiologic and can lead to suppression of hypothalamus-pituitary-gonadal axis.
